%0 Journal Article
%A Cruz García, Jesús Manuel de la
%A Bamford, Richard N.
%A Burdine, Rebecca D.
%A Roessler, Erich
%A Barkovich, A. James
%A Donnai, Dian
%A Schier, Alexander F.
%A Muenke, Maximiliam
%T A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects
%D 2002
%@ 0340-6717
%U https://hdl.handle.net/20.500.14352/59123
%X TDGF1 (CRIPTO) is an EGF-CFC family member and an obligate co-receptor involved in NODAL signaling, a developmental program implicated in midline, forebrain, and left-right axis development in model organisms. Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated that normal function of this protein is required for proper laterality development in humans. Here we identify a mutation in the conserved CFC domain of TDGF1 in a patient with midtine anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.
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